GABA(A) Receptor Coupling Junction and Pore GABRB3 Mutations are Linked to Early-Onset Epileptic Encephalopathy

GABA(A) receptors are brain inhibitory chloride ion channels. Here we show functional analyses and structural simulations for three de novo missense mutations in the GABA(A) receptor β3 subunit gene (GABRB3) identified in patients with early-onset epileptic encephalopathy (EOEE) and profound develop...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Sci Rep
Main Authors: Hernandez, Ciria C., Zhang, Yujia, Hu, Ningning, Shen, Dingding, Shen, Wangzhen, Liu, Xiaoyan, Kong, Weijing, Jiang, Yuwu, Macdonald, Robert L.
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group UK 2017
Assuntos:
Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5698489/
https://ncbi.nlm.nih.gov/pubmed/29162865
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-017-16010-3
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados